Varaico: Literature-Extracted Genetic Variants

NOTCH1

2,810 papers

RefSeq Summary

This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multipl...

Pfam Domains

EGFaa 106–137UCSCEGF-like domain

EGFaa 144–174UCSCEGF-like domain

EGF_CAaa 178–219UCSCCalcium-binding EGF domain

EGFaa 222–253UCSCEGF-like domain

EGFaa 261–291UCSCEGF-like domain

EGF_CAaa 295–335UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

notch receptor 1

HGNC Previous Symbol

TAN1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_017617.5

p.D297E

c.891C>A

Surrounding Variants

1 paper

NM_017617.5

p.D297D

c.891C>T

1 paper

NM_017617.5

p.D297E

c.891C>G

4 papers

NM_017617.5

p.E298*

c.892G>T

1 paper

NM_017617.5

p.E298K

c.892G>A

3 papers

NM_017617.5

p.D297G

c.890A>G

1 paper

NM_017617.5

p.D297_E298insA

c.889_893ins3

1 paper

NM_017617.5

p.D297N

c.889G>A

2 papers

NM_017617.5

p.E298G

c.893A>G

2 papers

NM_017617.5

p.E298D

c.894G>T

2 papers

NM_017617.5

p.E298D

c.894G>C

1 paper

NM_017617.5

p.V296V

c.888G>A

1 paper

NM_017617.5

p.V296L

c.886G>C